Cases in Adult Congenital Heart Disease, by Michael Gatzoulis et al., is a new, one-of-a-kind cardiology textbook designed to help you effectively manage these conditions through comprehensive visual guidance. Leading experts present 85 cases-ranging from the simple to the complex, supplemented by abundant videos and images-which enable you to diagnose these conditions from a real-life, clinical perspective. A companion DVD featuring surgical video clips of congential operations of both corrected and uncorrected problems, samples of heart sounds, and much more, helps you to better manage your patients. Features 85 cases encompassing a full range of congenital heart disease problems-from the simple to the complex-that provide a better understanding of these conditions from a real-life, clinical perspective. Presents examples of multiple imaging modalities (including chest radiography, echocardiography, CT, MR, and angiography) clearly depict the clinical manifestations of congenital defects and provide you with the best views available of these conditions. Includes a companion website at expertconsult.com featuring the full text fully searchable online and images and supplemented by a library of dynamic imaging clips allows you to access this unique resource in another convenient way. Offers guidance on the assessment of congenital heart disease during pregnancy equips you with essential knowledge in addressing the needs of this growing patient population.

Die medizinische Behandlung der ungewollten Kinderlosigkeit wird hierzulande nach wie vor mit einer Mischung aus Interesse am medizinisch-technischen Fortschritt und Sorge uber die mogli- cherweise nicht mehr kalkulierbaren Risiken dieses Fortschrittes betrachtet. Die Reaktionen reichen dabei von der implizi ten Gleichsetzung konkreter Formen der Reproduktionsmedizin mit den fiktiven Verhaltnissen in der 'Schonen Neuen welt'1, bis hin zu Einschatzungen, wonach sich die Reproduktionsmedizin in naher Zukunft als ein unverzichtbares Instrument bei der Bekampfung eines langandauernden Bevolkerungsruckganges in der BRD erweisen 2 werde. Auch wenn sich in den letzten 5-10 Jahren das Interesse der Offentlichkeit verstarkt den verschiedenen Formen der medizini- 3 schen Behandlung ungewollter Kinderlosigkeit zugewandt hat, so scheint mit diesem verstarkten Interesse kein Anstieg der Anzahl Der Vergleich des heutigen Potentials der Reproduk- tionsmedizin mit den Schilderungen der industriellen Erzeugung von Menschen in A. Huxleys Roman "Schone Neue Welt" gehort zu den Standardbildern in weiten Teilen der Literatur uber die medizinische Behandlung der ungewollten Kinderlosigkeit. So z.B. auch bei: Hirsch, G. und Eberbach W. (1987): Auf dem Weg zum kunstlichen Leben - Retortenkinder, Leihmutter, pro- grammierte Gene Basel, Boston, Stuttgart. S.31ff. 2 So ein Reproduktionsmediziner in der Fernsehsendung 'Explosiv' (RTL 22.5.'91). 3 Man denke z. B. nur an die Kontroversen im Zuge der Erarbeitung des Embryonenschutzgesetzes, an die Richt- linien zur Durchfuhrung der In-vitro-Fertilisation der Bundesarztekammer, an die Initiativen auf dem 56.

"Adopted at Cambridge University"

Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders.

This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.

"Essential Medical Genetics" is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).

The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.

The indispensable guide to all aspects of clinical care, the Oxford Handbook of Endocrinology and Diabetes has been fully updated for its fourth edition, providing comprehensive coverage of both disciplines in a practical and concise format. Featuring new chapters on transition in endocrinology and diabetes, practical nursing considerations, and the genetics of endocrinology, and expanded sections on inherited endocrine syndromes and MEN, it retains the clear organisation and layout for ease of reference as the previous edition over a broader range of topics. Combining authority, relevance, and reliability, this title includes new therapies and guidelines alongside 'clinical pearl' and 'tricky situation' boxes to aide readers in rare or complicated situations. This is the must-have guide for all trainees and specialist nurses in endocrinology and diabetes.

Molecular Chaperones in Human Disorders, Volume 114 in the Advances in Protein Chemistry and Structural Biology series, provides an overview of current developments in mechanisms underlying DNA repair and their involvement in maintaining chromatin repair, the balance between chromosomal repair pathways, tumorigenesis, immune signaling and infection-induced inflammation. Chapters in this new release cover Functional principles and regulation of molecular chaperones, Chaperones and retinal disorders, Protein misfolding and degradation in genetic diseases, Chaperone dysfunction in hereditary myopathic diseases, Diseases caused by functional disorder of molecular chaperones residing in the endoplasmic reticulum, and many other timely topics.

In einem alteren Anatomiebuche-findet sich iiber die Bauchspeichel- driise nichts als die Angabe: "Die Bauchspeicheldriise ist ein Organ, das sehr schwer zu finden ist und deshalb kein Interesse fiir uns hat. " Bis vor wenigen J ahren ging es der Physiologie des Wachstums nicht anders wie in obigem Zitat der Bauchspeicheldriise, widmet doch selbst das neueste vierbandige Handbuch der Physiologie von Nagel nicht den kleinsten Abschnitt eines Kapitels der Physiologie des Wachstums und in der Mehrzahl der physiologischen Vorlesungen an den Universi- taten findet die Grundfunktion alles Lebendigen, das Wachstum, wenn iiberhaupt, dann nur eine ganz fliichtige Erwahnung. In den letzten J ahren sind von verschiedenen Seiten und von verschiedenen Gesichts- punkten aus Wachstumsfragen experimentell und theoretisch in Angriff genommen worden, und die Zahl der Arbeiten iiber Wachstum ist be- reits derart groB und ihre Ergebnisse in so verschiedenen, oft schwer zuganglichen Zeitschriften niedergelegt, wie das Literaturverzeichnis be- weist, das es dem Verfasser angezeigt erechien, eine Physiologie des Wachstums mit besonderer Beriicksichtigung des Menschenwachstums einem weiteren Leserkreise zuganglich zu machen. Durch zahlreiche A bbildungen und Textvermehrung unterscheidet sich die vorliegende Monographie von der Arbeit des Verfassers iiber Wachstum, die in den Ergebnissen der inneren Medizin und Kinderheilkunde in Band VIII, Band IX und Band XI veroffentlicht worden war. Der Literaturnach- weis wurde dank der Zusammenstellung von Prof. Hans Aron in seiner Biochemie des Wachstums sehr erheblich vergroBert in bezug auf bio- chemische Arbeiten iiber Wachstum, wahrend zoologische Literatur den Arbeiten von pzibram entnommen werden konnte.

In haar bykans 35 jaar het Shéri Brynard merkwaardige mylpale bereik ten spyte van die feit dat sy as baba met Trisomie-21-Downsindroom gediagnoseer is. Sy vertel hoe die liefde en aanvaarding van diegene naaste aan haar, veral haar ma, Susette, haar gevorm het.

Sy deel met die leser die opwindende avonture op haar pad, die seerkry, vrees, en verliese (die grootste hiervan die dood van haar pa, Jerry), asook die werklikhede waarmee sy as ’n volwassene met Downsindroom gekonfronteer word. Dan gesels haar ma oor ’n lewe in die skaduwee van ’n kind met Downsindroom. Sy deel openhartig haar geloofstryd toe sy gehoor het haar kind het Downsindroom en haar en haar dogter se reis die onbekende in. Shéri – Nes ek is is ’n boek wat grense verskuif, want soos Shéri tereg vra: “Wat is nou eintlik normaal?”

Dié boek herinner die leser juis dat ons as kinders van God elkeen ons volle potensiaal kan bereik, ongeag die uitdagings waarvoor ons te staan kom.

Myotonic dystrophy is a multisystemic disorder. The epidemiology of DM is examined in the first chapter of this book as well as potential therapeutic strategies. The authors then go on to review the various involvement of the endocrine system in myotonic dystrophy and therapeutic strategies are proposed. The fourth chapter gives an overview on the diagnostic assessment and management of distinct clinical manifestations of CNS (Central Nervous System) involvement in DM patients, and the main topics regarding its pathogenesis are explored. The next chapter focuses on the strategy of neuromuscular blockage for patients with myotonic dystrophy, especially focusing on premedication, induction of anaesthesia, response to muscle relaxants, the crucial points of safe anaesthesiological care and other perioperative triggers. The development of biomarkers is of high importance in the diagnosis and monitoring of diseases and thus is examined with relation to DM1 (myotonic dystrophy type 1) patients. Other chapters summarize the different rehabilitative approaches that have been proposed in this disease; the novel, interesting findings of therapeutic potential to target DM1 with small molecule kinase inhibitors and the promises his may provide to this devastating disorder; the controversial, phenotypical consequences of the interrupted alleles on DM1 patients; and the sleep disorders associated with myotonic dystrophies.

* Confidently devise a safe and successful plan for the pump run for patients undergoing surgery for congenital heart disease. This practical guide for perfusionists and other members of the cardiac surgical team provides information on the devices, technology and techniques required for successful bypass of patients with congenital heart defects * A practical, spiral-bound, go-to reference designed to answer the most frequently-posed questions about bypass for CHD, the surgical treatment of which is often complicated * Focuses on the latest technology and techniques and provides clear, matter-of-fact guidance based on specific diagnoses * Written by a seasoned perfusionist who is co-chief and educator at one of the world s leading children s hospitals * Spiral binding allows the book to be laid flat for easy referral in the operating room * A notes section following each diagnosis enables readers to add institution and/or surgeon-specific information to tailor a bypass plan for each CHD lesion

All of us have lurking in our DNA a most remarkable gene, which has a crucial job - it protects us from cancer. Known simply as p53, this gene constantly scans our cells to ensure that they grow and divide without mishap, as part of the routine maintenance of our bodies. If a cell makes a mistake in copying its DNA during the process of division, p53 stops it in its tracks, summoning a repair team before allowing the cell to carry on dividing. If the mistake is irreparable and the rogue cell threatens to grow out of control, p53 commands the cell to commit suicide. Cancer cannot develop unless p53 itself is damaged or prevented from functioning normally. Perhaps unsurprisingly, p53 is the most studied single gene in history. This book tells the story of medical science's mission to unravel the mysteries of this crucial gene, and to get to the heart of what happens in our cells when they turn cancerous. Through the personal accounts of key researchers, p53: The Gene that Cracked the Cancer Code reveals the fascination of the quest for scientific understanding, as well as the huge excitement of the chase for new cures - the hype, the enthusiasm, the lost opportunities, the blind alleys, and the thrilling breakthroughs. And as the long-anticipated revolution in cancer treatment tailored to each individual patient's symptoms begins to take off at last, p53 remains at the cutting edge. This timely tale of scientific discovery highlights the tremendous recent advances made in our understanding of cancer, a disease that affects more than one in three of us at some point in our lives.

I Saw His Face Before Me is the story of the late Heather Anese Burns, her surviving parents Samuel and Patricia Burns, and her much loved brother Keenan. This achingly honest, moving account of two "deserved" lives, renders page upon page of wisdom, knowledge and compassion - compelling us to face the challenges and celebrate the successes of Heather's and Keenan's journey with Sickle Cell Anemia. Encircled in a heartwarming message the authors offer riveting eye- opening insights into parenting children and adults with incurable diseases, knowing each "first time" experience might be a "first time once." "I can do all things through Christ which strengthens me.."...Philippians 4:13 Heather's passion for all things Godly and her love for education and learning inspired her family and others who loved her to establish the Heather Burns Memorial Scholarship Fund. Learn more about the HBMSF at www.hbmsf.org

Congenital Heart Defects, or CHDs, are the most frequently occurring birth defect. In the US alone, over 25,000 babies are born each year with some form of CHD. In the last 20 years, medical advances and new surgical procedures have dramatically decreased the mortality rate of these abnormalities and led to a better understanding and treatment of CHDs in adults. This definitive work on the subject covers all aspects of CHD, under the editorship of a leading geneticist, cardiologist, and public health physician, and features contributions from 60 major authorities in the field. Coverage includes a broad range of topics on the development, epidemiology, genetics, diagnosis, management, prevention, and public health issues of CHDs. This book will be of interest to geneticists, epidemiologists, cardiologists, pediatricians, graduate students, researchers, and others interested in the treatment of individuals with CHDs.

This book on Hirschsprung's disease (HD) contains a complete update on the various aspects of this disease. It is the collaboration of an international group of paediatric surgeons well-known in their fields who are experts in this pathology and of other prestigious professionals -- neurobiologists, physiologists, geneticists, paediatricians, and histopathologists. Over the course of 28 chapters, these authors describe the latest advances in the diagnosis and treatment of this pathology. The first part is an update of the anorectal physiology, pathophysiology, genetics, and histopathology. The second part deals with the clinical manifestations and diagnosis in the new-born, with especial reference to manometric diagnosis during the neonatal period and to the morphological and radiological study. Other important chapters are devoted to differential diagnosis, preoperative care, indications for ostomy, and preparing the child for the pull-through. The third part describes the various classical surgical options (Swenson, Duhamel, Soave, Rehbein), and the new methods using laparoscopy and transanal pull-through, which have been the major breakthrough in the treatment of this condition. Total colonic aganglionosis and the critical review of the different surgical techniques occupy two magisterial chapters. The fourth part comprises an extensive exposition of enterocolitis in HD, the long-term results following surgery, other variants of HD, and two novel chapters in treatises on this disease (intestinal transplants and nutrition). In the Annex, parents of children with this disease describe their experience. The book ends with a final chapter devoted to informed consent. This book will be an invaluable reference for paediatric surgeons and paediatricians and gastroenterologists, and has a special interest for parents of children with Hirschsprung's disease.

A medical handbook for doctors and students in urban and rural areas in developing countries, especially in Africa; covering genetics and genetic disorders, containing approximately 240 colour photographs, and suitable for reference in the hospital ward or clinic.

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate
tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects,
as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke
are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to
recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

Based on some 30 years of research on people who claim to remember past lives, this work encompasses the full spectrum of theory and case study on the subject to date. Early in his investigations, Stevenson became aware that some who remember past lives had birthmarks or birth defects that corresponded to wounds, usually fatal, on the person whose life was remembered. The work suggests surprising answers to such questions as the following: Why does someone born with a birth defect have the one he or she has, instead of another one? Why do some children show phobias in early infancy when they have had no traumatic experiences and no model for the phobia in their family? Why are some monozygotic (one-egg) twins markedly different from each other? Why do many boys who later become homosexual show effeminate behavior in infancy before their parents can have influenced them to do so?

Writing as a scientist and a Western medical professional. Stevenson realizes that the idea that wounds on a deceased person can influence the embryo of a later-born baby is subversive of many assumptions of modern biology. Knowing that each individual case has some flaw or weakness, he decided to publish the entire corpus of cases of this sort. Photographs of birthmarks and illustrations of weapons form part of the evidence in this daring and explorative reaearch. This work will be of particular interest to physicians, psychiatrists, biologists, and anthropologists. In addition, those concerned with paranormal phenomena and the mind-brain problem will find this work challenging.

Drs. Bharati and Lev share the knowledge they've accumulated through the study of the pathology of congenital heart disease as seen in this century. Their detailed studies of over 6,300 congenitally malformed hearts give them a unique and comprehensive perspective on this topic. This monograph reports the results of their analyses and includes 2,700 excellent photographs. This book will be of significant interest to those working with or studying about congenital heart disease. This book will help clinicians and surgeons to diagnose congenital heart disease. Likewise, it offers protocol for correcting the lesions, nonsurgically and surgically. Concurrently, the text offers fertile ground for selective basic science specialities: genetics, immunology and molecular biology. Epidemiologists, statisticians and computer experts will want to review this book